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Management of a Patient With Congenital Biallelic CSF3R Mutation With GM-CSF

Yilmaz Karapinar, Deniz MD*; Özdemir, Hamiyet Hekimci MD*; Akinci, Burcu MD*; Yaşar, Akkiz Şahin MD*; Siviş, Zuhal Önder MD*; Onay, Hüseyin MD; Özkinay, Ferda MD

Journal of Pediatric Hematology/Oncology: November 28, 2018 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001359
Clinical and Laboratory Observations: PDF Only

Severe Congenital Neutropenia (SCN) is a rare inherited disease characterized by an absolute neutrophil count (ANC) lower than 500/μL. Genetic heterogeneity and biallelic CSF3R mutation has rarely been identified as an underlying genetic defect in SCN. The majority of SCN patients respond to granulocyte colony stimulating factor treatment; however, in patients with inherited CSF3R mutation, ANC cannot generally be increased with granulocyte colony stimulating factor treatment. In such cases, granulocyte macrophage colony stimulating factor presents as an effective treatment option. Herein, we report a case of a 5-year-old SCN girl with homozygous c610-611 del ins AG (p.Q204R) mutation in the CSF3R gene, who was successfully treated with granulocyte macrophage colony stimulating factor.

Departments of *Pediatric Hematology

Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey

The authors declare no conflict of interest.

Reprints: Deniz Yilmaz Karapinar, MD, Department of Pediatric Hematology, Faculty of Medicine, Ege University, Izmir 35040, Turkey (e-mail:

Received June 26, 2018

Accepted October 22, 2018

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